Incidental Mutation 'IGL01621:Itga6'
ID 92593
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Itga6
Ensembl Gene ENSMUSG00000027111
Gene Name integrin alpha 6
Synonyms 5033401O05Rik, Cd49f
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01621
Quality Score
Status
Chromosome 2
Chromosomal Location 71617236-71688761 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 71656000 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 308 (D308V)
Ref Sequence ENSEMBL: ENSMUSP00000107729 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028522] [ENSMUST00000112101]
AlphaFold Q61739
Predicted Effect probably benign
Transcript: ENSMUST00000028522
AA Change: D308V

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000028522
Gene: ENSMUSG00000027111
AA Change: D308V

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
Int_alpha 40 101 3.12e-6 SMART
Int_alpha 254 303 2.7e-1 SMART
Int_alpha 312 368 1.46e-11 SMART
Int_alpha 373 426 9.73e-17 SMART
Int_alpha 428 483 5.83e0 SMART
SCOP:d1m1xa2 629 786 5e-32 SMART
SCOP:d1m1xa3 797 1017 3e-55 SMART
Pfam:Integrin_alpha 1038 1052 3.2e-7 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000112101
AA Change: D308V

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000107729
Gene: ENSMUSG00000027111
AA Change: D308V

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
Int_alpha 40 101 3.12e-6 SMART
Int_alpha 254 303 2.7e-1 SMART
Int_alpha 312 368 1.46e-11 SMART
Int_alpha 373 426 9.73e-17 SMART
Int_alpha 428 483 5.83e0 SMART
SCOP:d1m1xa2 629 786 4e-32 SMART
SCOP:d1m1xa3 797 1017 4e-55 SMART
low complexity region 1058 1070 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152009
Predicted Effect probably benign
Transcript: ENSMUST00000155249
SMART Domains Protein: ENSMUSP00000118086
Gene: ENSMUSG00000027111

DomainStartEndE-ValueType
Pfam:Integrin_alpha2 58 533 4.7e-131 PFAM
transmembrane domain 609 631 N/A INTRINSIC
Pfam:Integrin_alpha 632 646 6.2e-8 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a protein that is a member of the integrin superfamily. Integrins are transmembrane receptors involved cell adhesion and signaling, and they are subdivided based on the heterodimer formation of alpha and beta chains. This protein has been shown to heterodimerize with beta 4 to bind laminin and to form the main component of hemidesmosomes, which mediate attachment of epithelia to basement membranes. In mouse, deficiency of this gene is associated with absence of hemidesmosomes, severe skin blistering, and early post-natal death. In humans mutations of this gene are associated with epidermolysis bullosa. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, May 2013]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit severe blistering of the skin and other epithelia, absence of hemidesmosomes, altered laminin deposition in brain, and ectopic neuroblastic outgrowths on the brain and in the eye. Mutants die at birth. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610040J01Rik C T 5: 64,055,726 (GRCm39) T154I possibly damaging Het
4933434E20Rik T A 3: 89,971,809 (GRCm39) M56K possibly damaging Het
Abca6 A G 11: 110,075,534 (GRCm39) L1319S probably damaging Het
Adh4 C T 3: 138,134,788 (GRCm39) probably benign Het
Aloxe3 A G 11: 69,020,839 (GRCm39) N188S probably benign Het
Ap1s1 G A 5: 137,070,658 (GRCm39) R119* probably null Het
Apc2 T G 10: 80,142,035 (GRCm39) L318R probably damaging Het
Atg101 A G 15: 101,184,976 (GRCm39) S33G possibly damaging Het
Atp8a2 A T 14: 60,253,317 (GRCm39) probably benign Het
Bpifb9b C A 2: 154,158,871 (GRCm39) probably null Het
Braf A T 6: 39,623,787 (GRCm39) probably benign Het
Cabp5 A G 7: 13,135,189 (GRCm39) D43G probably damaging Het
Cfap46 T C 7: 139,186,523 (GRCm39) N2462S unknown Het
Cit C T 5: 116,130,662 (GRCm39) probably benign Het
Cpa4 T C 6: 30,574,415 (GRCm39) V68A probably damaging Het
Cyp2j5 T C 4: 96,517,791 (GRCm39) I474V probably benign Het
Dennd1a C A 2: 37,734,821 (GRCm39) D49Y probably damaging Het
Dlg5 T C 14: 24,198,289 (GRCm39) D1525G probably damaging Het
Dnajc18 C T 18: 35,813,893 (GRCm39) R292H probably benign Het
Dync2h1 A G 9: 7,140,897 (GRCm39) probably null Het
E2f6 A G 12: 16,875,369 (GRCm39) D268G probably benign Het
Evi2b T A 11: 79,407,126 (GRCm39) T150S probably damaging Het
F13b A G 1: 139,431,589 (GRCm39) D53G probably benign Het
Fbxo38 G A 18: 62,655,595 (GRCm39) probably benign Het
Flnb C T 14: 7,950,470 (GRCm38) P2596L probably damaging Het
Fyco1 A G 9: 123,656,247 (GRCm39) probably benign Het
Gm21759 A G 5: 8,229,775 (GRCm39) probably benign Het
Gtse1 A G 15: 85,759,283 (GRCm39) N597S probably benign Het
Hcn3 G T 3: 89,055,030 (GRCm39) S739Y probably damaging Het
Ighv9-4 T A 12: 114,263,612 (GRCm39) N107I probably damaging Het
Inava C A 1: 136,147,513 (GRCm39) A402S probably damaging Het
Iqub T C 6: 24,446,211 (GRCm39) K738E probably benign Het
Klf12 T C 14: 100,260,585 (GRCm39) Y48C probably damaging Het
Klhdc9 A G 1: 171,186,384 (GRCm39) *351Q probably null Het
Krt40 A T 11: 99,433,694 (GRCm39) N97K probably damaging Het
Lrit1 A C 14: 36,782,112 (GRCm39) T262P probably damaging Het
Mcoln1 T C 8: 3,560,910 (GRCm39) Y411H probably damaging Het
Mfsd4a A G 1: 131,981,881 (GRCm39) S149P probably benign Het
Minar2 A G 18: 59,195,458 (GRCm39) M1V probably null Het
Mipep A G 14: 61,033,614 (GRCm39) probably benign Het
Mslnl A G 17: 25,962,641 (GRCm39) probably benign Het
N4bp2 A T 5: 65,948,267 (GRCm39) H299L probably damaging Het
Nbn C T 4: 15,965,221 (GRCm39) P190S probably benign Het
Nos1 T A 5: 118,083,949 (GRCm39) I1253N probably damaging Het
Nup210 G T 6: 91,007,099 (GRCm39) F572L probably damaging Het
Or10k2 T C 8: 84,268,247 (GRCm39) V158A probably benign Het
Or1e30 T C 11: 73,678,103 (GRCm39) F113S probably damaging Het
Or2y11 T C 11: 49,442,964 (GRCm39) L130P probably damaging Het
P4htm T A 9: 108,460,935 (GRCm39) E106V probably damaging Het
Pcdhb20 C T 18: 37,637,860 (GRCm39) H129Y possibly damaging Het
Pdcd6ip T C 9: 113,514,490 (GRCm39) E240G probably benign Het
Pex5l T C 3: 33,069,110 (GRCm39) probably null Het
Plcd1 T C 9: 118,905,246 (GRCm39) N181S probably damaging Het
Plekhg6 G T 6: 125,349,062 (GRCm39) L412M probably damaging Het
Ppp1r13b T A 12: 111,801,526 (GRCm39) Q386L possibly damaging Het
Pramel25 T C 4: 143,520,502 (GRCm39) F85L probably benign Het
Prpf40b A G 15: 99,207,926 (GRCm39) probably benign Het
Rdh11 C T 12: 79,233,187 (GRCm39) probably null Het
Ripor3 A T 2: 167,839,172 (GRCm39) S110T probably damaging Het
Sec24d G A 3: 123,087,807 (GRCm39) probably null Het
Secisbp2l T C 2: 125,615,131 (GRCm39) S165G probably benign Het
Shank1 C T 7: 43,991,889 (GRCm39) A698V unknown Het
Shank1 T C 7: 44,001,023 (GRCm39) M914T unknown Het
Slc22a3 T C 17: 12,677,379 (GRCm39) Q263R probably benign Het
Smc1a C A X: 150,819,125 (GRCm39) Q647K probably damaging Het
Sohlh1 A G 2: 25,736,873 (GRCm39) probably benign Het
Tacc2 C A 7: 130,331,498 (GRCm39) T484K probably damaging Het
Ubr4 G T 4: 139,168,094 (GRCm39) E2825* probably null Het
Wbp2nl G A 15: 82,192,806 (GRCm39) M163I probably benign Het
Zfp69 T A 4: 120,788,697 (GRCm39) K206M probably damaging Het
Zswim3 G A 2: 164,663,440 (GRCm39) R640H probably damaging Het
Other mutations in Itga6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00832:Itga6 APN 2 71,668,606 (GRCm39) splice site probably null
IGL00902:Itga6 APN 2 71,679,738 (GRCm39) missense probably benign 0.39
IGL01360:Itga6 APN 2 71,617,670 (GRCm39) splice site probably null
IGL01877:Itga6 APN 2 71,668,624 (GRCm39) missense probably benign
IGL02332:Itga6 APN 2 71,668,717 (GRCm39) missense possibly damaging 0.63
IGL02556:Itga6 APN 2 71,669,027 (GRCm39) missense probably benign 0.20
IGL02713:Itga6 APN 2 71,647,057 (GRCm39) missense possibly damaging 0.79
IGL02811:Itga6 APN 2 71,657,076 (GRCm39) missense probably damaging 0.98
IGL03171:Itga6 APN 2 71,671,673 (GRCm39) critical splice donor site probably null
isle_royale UTSW 2 71,617,577 (GRCm39) missense probably benign 0.04
PIT4418001:Itga6 UTSW 2 71,664,414 (GRCm39) missense probably benign 0.06
R0070:Itga6 UTSW 2 71,657,060 (GRCm39) unclassified probably benign
R0611:Itga6 UTSW 2 71,650,404 (GRCm39) missense possibly damaging 0.84
R1404:Itga6 UTSW 2 71,669,060 (GRCm39) missense probably benign
R1404:Itga6 UTSW 2 71,669,060 (GRCm39) missense probably benign
R1439:Itga6 UTSW 2 71,664,378 (GRCm39) missense probably damaging 1.00
R1487:Itga6 UTSW 2 71,673,584 (GRCm39) missense possibly damaging 0.87
R1713:Itga6 UTSW 2 71,617,546 (GRCm39) missense probably benign
R1720:Itga6 UTSW 2 71,650,510 (GRCm39) missense probably damaging 1.00
R1816:Itga6 UTSW 2 71,671,153 (GRCm39) missense probably benign 0.00
R1866:Itga6 UTSW 2 71,664,414 (GRCm39) missense probably benign
R2009:Itga6 UTSW 2 71,647,025 (GRCm39) missense probably benign 0.26
R2018:Itga6 UTSW 2 71,648,828 (GRCm39) missense probably benign 0.16
R2171:Itga6 UTSW 2 71,650,358 (GRCm39) missense probably damaging 1.00
R2189:Itga6 UTSW 2 71,655,961 (GRCm39) missense probably benign 0.00
R2289:Itga6 UTSW 2 71,648,873 (GRCm39) missense probably damaging 0.99
R2399:Itga6 UTSW 2 71,650,358 (GRCm39) missense probably damaging 1.00
R4437:Itga6 UTSW 2 71,655,982 (GRCm39) missense probably benign 0.42
R4482:Itga6 UTSW 2 71,686,259 (GRCm39) missense probably damaging 1.00
R4773:Itga6 UTSW 2 71,652,788 (GRCm39) missense probably benign 0.13
R4786:Itga6 UTSW 2 71,669,034 (GRCm39) missense possibly damaging 0.80
R4898:Itga6 UTSW 2 71,668,717 (GRCm39) missense possibly damaging 0.77
R5074:Itga6 UTSW 2 71,656,779 (GRCm39) missense probably benign
R5386:Itga6 UTSW 2 71,671,494 (GRCm39) missense probably damaging 1.00
R5591:Itga6 UTSW 2 71,670,934 (GRCm39) missense probably damaging 1.00
R6024:Itga6 UTSW 2 71,617,577 (GRCm39) missense probably benign 0.04
R6174:Itga6 UTSW 2 71,664,053 (GRCm39) missense possibly damaging 0.88
R6210:Itga6 UTSW 2 71,664,351 (GRCm39) critical splice acceptor site probably null
R6432:Itga6 UTSW 2 71,664,116 (GRCm39) missense possibly damaging 0.75
R6644:Itga6 UTSW 2 71,671,468 (GRCm39) missense probably damaging 1.00
R7354:Itga6 UTSW 2 71,650,574 (GRCm39) missense probably damaging 1.00
R7402:Itga6 UTSW 2 71,683,897 (GRCm39) missense probably benign 0.05
R7479:Itga6 UTSW 2 71,668,680 (GRCm39) nonsense probably null
R7635:Itga6 UTSW 2 71,673,577 (GRCm39) missense probably benign 0.00
R7657:Itga6 UTSW 2 71,676,595 (GRCm39) missense probably benign 0.40
R7737:Itga6 UTSW 2 71,652,787 (GRCm39) missense probably benign 0.38
R7782:Itga6 UTSW 2 71,671,879 (GRCm39) missense probably damaging 0.98
R8062:Itga6 UTSW 2 71,672,087 (GRCm39) missense probably benign 0.11
R8312:Itga6 UTSW 2 71,686,297 (GRCm39) missense probably benign
R8698:Itga6 UTSW 2 71,673,618 (GRCm39) missense probably benign
R9080:Itga6 UTSW 2 71,673,633 (GRCm39) missense probably benign
R9169:Itga6 UTSW 2 71,647,015 (GRCm39) missense possibly damaging 0.74
R9209:Itga6 UTSW 2 71,671,477 (GRCm39) missense probably benign 0.27
R9267:Itga6 UTSW 2 71,668,756 (GRCm39) missense probably benign 0.00
R9483:Itga6 UTSW 2 71,679,834 (GRCm39) missense probably benign 0.03
R9747:Itga6 UTSW 2 71,656,871 (GRCm39) missense probably damaging 1.00
Posted On 2013-12-09